Sample: 17301

Panell: mama

ExomeDepth

ExomeDepth is a R package designed to detect inherited copy number variants (CNVs) using whole exome data (WES) and smaller multi-gene panels. ExomeDepth uses read depth data to call CNVs i.e. it compares the number of reads for a given region with the number of reads of a an aggregate reference set.

Two parameters are provided with the CNV call:

Results